Pregnancy and Gitelman Syndrome
November 05, 2022 | 10:00 AM - 12:00 PM
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Pregnancy and Gitelman Syndrome
- Fluid, Electrolyte, and Acid-Base Disorders: Case Reports
November 05, 2022 | Location: Exhibit Hall, Orange County Convention Center‚ West Building
Abstract Time: 10:00 AM - 12:00 PM
Category: Fluid‚ Electrolyte‚ and Acid-Base Disorders
- 1002 Fluid‚ Electrolyte‚ and Acid-Base Disorders: Clinical
- Gomez, Daniel, Yale University Department of Internal Medicine, New Haven, Connecticut, United States
- Brewster, Ursula C., Yale University Department of Internal Medicine, New Haven, Connecticut, United States
Ursula C. Brewster,
Gitelman Syndrome (GS) is a rare genetic tubulopathy resulting in hypokalemia and hypomagnesemia through renal wasting that is caused by a mutation in the SLC12A3 gene that codes for NCC in the Distal convoluted tubule. We present a case of a pregnant patient with GS and discuss management challenges. The physiologic increase in GFR due to pregnancy, increases potassium/magnesium wasting causing a challenge.
A 33-year old female with GS presented to nephrology clinic 10 weeks pregnant. She was diagnosed as a teen when routine blood work showed hypokalemia and hypomagnesemia. She previously took KCl 40 mEq four times per day and MgOx 400mg twice a day. She refused sequencing.
Blood Pressure was 105/67 mmHg Heart Rate 84/min with normal exam. Initial labs notable for Na 138 mEq/L, K 2.4 mEq/L, HCO3 23 mEq/L, Ca 9.4 mg/dL, Cr 0.5 mg/dL, BUN 11 mg/dL, Mg 1.3 mg/dL. A 24 hour urine study showed volume of 3 L, potassium of 285 mmol/24h, Magnesium 134 mg/g Cr and Creatinine 1.44 g/ 24h. Increase in supplementation didn’t substantially increase levels. In an attempt to downregulate the renin angiotensin aldosterone system due to hypovolemia, 1g NaCl tablets three times daily was added and Magnesium oxide was changed to Magnesium lactate for better absorption and lower side effects. Repeat 24 hour urine post salt tablets, showed the potassium dropped to 249 mmol/24h, with no change in Mg. Supplements were titrated up and ultimately she was placed on KCL 200 mEq/24h and 2,672 mg MgLac/24h. On this regimen her labs were Na 136 mEq, K 2.9 mEq, HCO3 27 mEq, Mg 1.3 mg/dL stayed throughout the pregnancy, delivering without complications a normokalemic baby. She remained asymptomatic. Her regimen had 21 pills per day, but she never required IV supplementation. She struggled with anxiety and frustration from pill burden and constant monitoring.
This case illustrates the difficulties that patients with GS face when they become pregnant. Successful pregnancies are possible with close monitoring. GFR increases in pregnancy, increasing K/Mg wasting. Hypokalemia and hypomagnesemia can be treated with high salt diet, oral potassium and magnesium supplementation to achieve adequate electrolyte levels. It is important to understand various Mg preparations available and their side effect profile to aggressively replete orally. Despite the challenges, patients with GS can successfully carry pregnancies with careful monitoring.